Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000235081 | SCV000292353 | likely pathogenic | Charcot-Marie-Tooth disease type 2R | 2015-08-18 | criteria provided, single submitter | research | Likely pathogenic based on conservation and prediction scores (Phylop, Polyphen, SIFT, MutationTaster) and consistent with peripheral axonal neuropathy of individual. |
OMIM | RCV000235081 | SCV000238517 | pathogenic | Charcot-Marie-Tooth disease type 2R | 2015-06-01 | no assertion criteria provided | literature only |